Progress in the application of PGT in hereditary tumors

Xianling CAO; Xuanyou ZHOU; Songchang CHEN; Hefeng HUANG; Chenming XU

doi:10.19401/j.cnki.1007-3639.2022.11.001

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Progress in the application of PGT in hereditary tumors

Specialists' Commentary | 更新时间：2025-12-31

- Progress in the application of PGT in hereditary tumors
- China Oncology Vol. 32, Issue 11, Pages: 1037-1043(2022)
- 作者机构：
  
  1. 复旦大学附属妇产科医院妇产科遗传中心，上海 200011
  2. 复旦大学生殖与发育研究院，上海 200032
- 作者简介：
- 基金信息：
- DOI：10.19401/j.cnki.1007-3639.2022.11.001
  CLC： R73
- Received：15 October 2022，
  
  Revised：2022-11-15，
  
  Published：30 November 2022
- 稿件说明：
移动端阅览
Xianling CAO, Xuanyou ZHOU, Songchang CHEN, et al. Progress in the application of PGT in hereditary tumors[J]. China Oncology, 2022, 32(11): 1037-1043.
DOI：

Xianling CAO, Xuanyou ZHOU, Songchang CHEN, et al. Progress in the application of PGT in hereditary tumors[J]. China Oncology, 2022, 32(11): 1037-1043. DOI： 10.19401/j.cnki.1007-3639.2022.11.001.

摘要

遗传性肿瘤本质上是遗传物质缺陷导致的疾病，大多数呈现出孟德尔常染色体显性遗传规律，不仅危害患者的健康，而且对后代构成严重威胁。遗传性肿瘤胚胎植入前遗传学检测（preimplantation genetic testing，PGT）是利用外受精-胚胎移植（

in vitro

fertilization and embryo transfer，IVF-ET）和遗传学检测技术，对卵母细胞的极体、第3天的胚胎或第5天的囊胚进行遗传性肿瘤致病基因的检测，选择无遗传性肿瘤易感基因致病性变异的胚胎移植到子宫中，从而阻断遗传性肿瘤的子代传递并降低后代患病风险。本文简要介绍目前常见的遗传性肿瘤及其特征，总结PGT技术在家族性腺瘤性息肉病、遗传性乳腺癌/卵巢癌综合征等常见遗传性肿瘤及罕见遗传性肿瘤生殖干预中的应用，探讨遗传性肿瘤PGT技术的发展和伦理问题，并对其未来发展方向进行展望。

Abstract

Hereditary tumors are essentially diseases caused by genetic material defects

and most of them exhibit Mendelian autosomal dominant inheritance. It not only endangers the health of patients

but also poses a serious threat to future generations. Preimplantation genetic testing (PGT) combined with

in vitro

fertilization and embryo transfer (IVF-ET) technology can dete

ct the chromosomes or specific genes of gametes or embryos

and finally select embryos without pathogenic mutations of hereditary tumor susceptibility genes to be implanted into the uterus

thereby blocking the offspring transmission of hereditary tumors and reducing their incidence. This article briefly introduced the common hereditary tumors and their characteristics at present

summarized the application of PGT technology in reproductive intervention of common hereditary tumors and rare hereditary tumors such as familial adenomatous polyposis

hereditary breast cancer/ovarian cancer syndrome

discussed the development and ethical issue of PGT technology for hereditary tumors

and looked forward to its future development direction.

关键词

Keywords

references

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